Phenotypes Associated with This Genotype

Genotype
MGI:4829971

• Allelic Composition: Capn3^tm1.1Hiso/Capn3^tm1.1Hiso
• Genetic Background: B6.129P2-Capn3^tm1.1Hiso

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Muscular dystrophy phenotypes in Capn3^tm1.1Hiso/Capn3^tm1.1Hiso mice

muscle

abnormal skeletal muscle fiber morphology ( J:163711 )

• mice exhibit split myofibers and myofibers with centrally located nuclei unlike in wild-type mice

• abnormal muscle fiber morphology increases with age

decreased skeletal muscle fiber diameter ( J:163711 )

centrally nucleated skeletal muscle fibers ( J:163711 )

skeletal muscle degeneration ( J:163711 )

dystrophic muscle ( J:163711 )

homeostasis/metabolism

increased circulating creatine kinase level ( J:163711 )

• mice exhibit base line and exercise-provoked muscle degeneration unlike wild-type mice

• however, muscle regeneration in exercised mice is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2A		DOID:0110275	OMIM:253600	J:163711